AUSTIN, Texas — With four children and 10 grandchildren, Austin resident Kelly Kelley has everything to fight for.
"They have all come to accept that I'm sick but I'm not done,” Kelley said. "My first reaction was shock, denial, depression, anger, and then, 'What are you going to do about this?'"
Since being diagnosed with Pompe disease in 2015, she spends two to three days a month at the Austin Neuromuscular Center.
Under the care of infusion specialists, Kelley receives critical enzyme therapy replacement treatments to combat the rare genetic disorder.
“I have better things to do for seven hours but I'll keep doing this until we find a cure,” Kelley said.
Dr. Yessar Hussain has been treating patients with this muscular disease since 2012. It affects nearly one in 22,000 Americans.
Currently, the state of Texas has 51 patients receiving treatment to slow its effects, which limit the ability to walk and breathe over time.
"Your body fails to process the sugar in the muscles needed for energy,” Dr. Hussain said. "Not missing the diagnosis is quite literally life and death to kids and older patients."
When Kelley isn’t fighting this terminal disease, she's advocating about it.
Using her job as a ride share driver, along with a few stuffed sloths on the dashboard, the 56-year old welcomes all questions and comments on her daily struggles.
"We get around slowly, we walk slow but we're not slow mind-wise,” Kelley said. "My main thing is trying to get it on newborn screening, that is a must."
Part of several local support groups in Central Texas, Kelley said she’s learned the key to her longevity is living every day. Doing what she can while she can.
"I don't think about dying, I think about living life to the fullest,” Kelley said.